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Details Of NON Syndromic Child Disease

Disease Name phenotype Inheritance Mode Chr Location Mutation Type Gene Name mRNA Variant Protein Variant Effect Reference
Hearing Impairment 73 (DFNB73, BSND) severe to profound hearing loss Autosomal Recessive 1p32.3 Missense BSND 35T>C Ile12Thr Amino Acid Substitution 0/Riazuddin et al., 2009
Hearing Impairment 73 (DFNB73, BSND) severe to profound hearing loss Autosomal Recessive 1p32.3 Nonsense BSND 10G>T Glu4* Premature Termination 0/Riazuddin et al., 2009